Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

Havasi V., Rowe S. M. , Kolettis P. N. , DAYANGAÇ ERDEN D., Sahin A. , Grangeia A., ...Daha Fazla

FERTILITY AND STERILITY, cilt.94, sa.6, ss.2122-2127, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 94 Konu: 6
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.fertnstert.2009.11.044
  • Sayfa Sayıları: ss.2122-2127


Objective: To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We tested the hypothesis that polymorphisms of transforming growth factor (TGF)-beta 1 (rs 1982073, rs 1800471) and endothelin receptor type A (EDNRA) (rs 5335, rs 1801708) are associated with the CBAVD phenotype.